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Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases

Title:	Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
Authors:	Hock, Daniella H.^{Aff1, Aff2, Aff3, IDs1307302501467z_cor1}; Caruana, Nikeisha J.^{Aff1, Aff4}; Semcesen, Liana N.^Aff1; Lake, Nicole J.^Aff5; Formosa, Luke E.^Aff6; Amarasekera, Sumudu S. C.^Aff2; Stait, Tegan^Aff2; Tregoning, Simone^Aff2; Frajman, Leah E.^Aff2; Bournazos, Adam M.^{Aff7, Aff8, Aff9}; Robinson, David R. L.^Aff1; Ball, Megan^{Aff2, Aff11, Aff15}; Reljic, Boris^{Aff1, Aff6}; Ryder, Bryony^Aff12; Wallis, Mathew J.^{Aff13, Aff14}; Vasudevan, Anand^Aff10; Beck, Cara^Aff3; Peters, Heidi^{Aff11, Aff15}; Lee, Joy^{Aff3, Aff15}; Tan, Natalie B.^{Aff2, Aff3, Aff11}; Freckmann, Mary-Louise^Aff16; Karlaftis, Vasiliki^{Aff2, Aff11}; Attard, Chantal^{Aff2, Aff11}; Monagle, Paul^{Aff2, Aff11, Aff17, Aff18}; Samarasinghe, Amanda^Aff2; Brown, Rosie^{Aff2, Aff3}; Bi, Weimin^{Aff19, Aff20}; Lek, Monkol^Aff5; McFarland, Robert^{Aff21, Aff22}; Taylor, Robert W.^{Aff21, Aff22}; Ryan, Michael T.^Aff6; Cooper, Sandra T.^{Aff7, Aff8, Aff9}; Stark, Zornitza^{Aff2, Aff3, Aff11}; Christodoulou, John^{Aff2, Aff3, Aff11}; Compton, Alison G.^{Aff2, Aff3, Aff11}; Thorburn, David R.^{Aff2, Aff3, Aff11, IDs1307302501467z_cor2}; Stroud, David A.^{Aff1, Aff2, Aff3, IDs1307302501467z_cor3}; Filipovska, Aleksandra; Stojanovski, Diana; Coman, David; Murray, Sean; Davis, Ryan L.; Ghaoui, Roula; Sallevelt, Suzanne C. E. H.; Simons, Cas; Siira, Stefan J.; Balasubramaniam, Shanti; MacArthur, Daniel G.; Elbaum, Yoni; Atthow, Catherine; McGrath, Pauline; Martin, Ellenore M.; Harris, Madeleine
Source:	Genome Medicine. 17(1)
Database:	Springer Nature Journals